这一研究团队对15842名研究对象采取心电图检查和基因组分析后发现，一种名为“Nos1ap”的基因及其9种变体可改变心脏肌肉收缩时间即QT间期，进而导致猝死危险上升。

QT间期反映每次心跳过程中从心室受到刺激至心肌活动结束这段时间的生物电活动。QT间期异常可表现为严重心律不齐，QT间期过长，猝死几率更高。

心脏病可导致QT间期过长这种心律异常情况几率上升，但一般很难发现人体遗传有这些“猝死基因”。

团队成员、美国约翰斯·霍普金斯大学医学院讲师丹·阿金博士说，科研人员已知“Nos1ap”基因会引发心脏疾病，但那9种新发现基因变体中“近半数以前从未有人认为它们与心脏生理学相关”。

“从某种意义上说，问题在于大多数人不知道这些风险。他们没有患高胆固醇，也不肥胖”，阿金说，这些基因或许是导致他们中一些人猝死的唯一原因。

据世界卫生组织统计，心脏病是危害人类健康的“头号杀手”，每年在全球范围致死1700万人。

路透社援引阿金的话说，这一研究团队下一阶段将找出这10种基因分别能在多大程度加重猝死危险，以利于开发相应药物和疗法。

这一研究成果发表于英国《自然》杂志子刊物《自然遗传学》杂志。

推荐原始出处：

Nature Genetics 22 March 2009 | doi:10.1038/ng.362

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

Arne Pfeufer1,2,25, Serena Sanna3,25, Dan E Arking4,25, Martina Müller5,6,7, Vesela Gateva8, Christian Fuchsberger9, Georg B Ehret4, Marco Orrú3, Cristian Pattaro9, Anna K?ttgen10, Siegfried Perz11, Gianluca Usala3, Maja Barbalic12, Man Li10, Benno Pütz13, Angelo Scuteri14, Ronald J Prineas15, Moritz F Sinner7, Christian Gieger5, Samer S Najjar16, W H Linda Kao10, Thomas W. Mühleisen17,18, Mariano Dei3, Christine Happle1,2, Stefan M?hlenkamp19, Laura Crisponi3, Raimund Erbel19, Karl-Heinz J?ckel20, Silvia Naitza3, Gerhard Steinbeck7, Fabio Marroni9, Andrew A Hicks9, Edward Lakatta16, Bertram Müller-Myhsok13, Peter P Pramstaller9,21,22, H-Erich Wichmann5,6, David Schlessinger23, Eric Boerwinkle12, Thomas Meitinger1,2, Manuela Uda3, Josef Coresh10,24, Stefan K??b7, Gon?alo R Abecasis8 & Aravinda Chakravarti4,24

The QT interval, a measure of cardiac repolarization, predisposes to ventricular arrhythmias and sudden cardiac death (SCD) when prolonged or shortened. A common variant in NOS1AP is known to influence repolarization. We analyze genome-wide data from five population-based cohorts (ARIC, KORA, SardiNIA, GenNOVA and HNR) with a total of 15,842 individuals of European ancestry, to confirm the NOS1AP association and identify nine additional loci at P < 5  10-8. Four loci map near the monogenic long-QT syndrome genes KCNQ1, KCNH2, SCN5A and KCNJ2. Two other loci include ATP1B1 and PLN, genes with established electrophysiological function, whereas three map to RNF207, near LITAF and within NDRG4-GINS3-SETD6-CNOT1, respectively, all of which have not previously been implicated in cardiac electrophysiology. These results, together with an accompanying paper from the QTGEN consortium, identify new candidate genes for ventricular arrhythmias and SCD.

1 Institute of Human Genetics, Helmholtz Center Munich, Germany.
2 Institute of Human Genetics, Klinikum rechts der Isar der Technischen Universit?t München, Munich, Germany.
3 Istituto di Neurogenetica e Neurofarmacologia, CNR, Monserrato, Cagliari, Italy.
4 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
5 Institute of Epidemiology, Helmholtz Center Munich, Germany.
6 Institute of Informatics, Biometry and Epidemiology, Ludwig-Maximilians-Universit?t, Munich, Germany.
7 Department of Medicine I, Klinikum Grosshadern, Munich, Germany.
8 Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
9 Institute of Genetic Medicine, EURAC European Academy, Bolzano, Italy.
10 Department of Epidemiology, Johns Hopkins University, Baltimore, Maryland, USA.
11 Institute of Medical Informatics, Helmholtz Center Munich, Germany.
12 Genetics Center, University of Texas Health Science Center, Houston, Texas, USA.
13 Statistical Genetics, Max Planck Institute of Psychiatry, Munich, Germany.
14 Unità Operativa Geriatria, Istituto Ricovero e Cura per Anziani, Rome, Italy.
15 Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
16 Laboratory of Cardiovascular Science, Gerontology Research Center, National Institute on Aging, Baltimore, Maryland, USA.
17 Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany.
18 Institute of Human Genetics, University of Bonn, Bonn, Germany.
19 Clinic of Cardiology, West German Heart Center, University Hospital of Essen, University Duisburg-Essen, Germany.
20 Institute for Medical Informatics, Biometry and Epidemiology, University Hospital of Essen, University Duisburg-Essen, Germany.
21 Department of Neurology, General Central Hospital, Via Bohler 5, Bolzano, Italy.
22 Department of Neurology, University of Lübeck, Lübeck, Germany.
23 Laboratory of Genetics, National Institute on Aging, Baltimore, Maryland, USA.
24 Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
25 These authors contributed equally to this work.